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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: konstantino m. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.
Deniz E, Pasha M, Guerra ME, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani SA, Medne L, Skraban C, Krantz I, Khokha MK. Deniz E, et al. Among authors: konstantino m. Dev Biol. 2023 Jul;499:75-88. doi: 10.1016/j.ydbio.2023.04.006. Epub 2023 May 10. Dev Biol. 2023. PMID: 37172641 Free PMC article.
Incidence of and Neurodevelopmental Outcomes After Late-Onset Meningitis Among Children Born Extremely Preterm.
Brumbaugh JE, Bell EF, Do BT, Greenberg RG, Stoll BJ, DeMauro SB, Harmon HM, Hintz SR, Das A, Puopolo KM; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Brumbaugh JE, et al. JAMA Netw Open. 2022 Dec 1;5(12):e2245826. doi: 10.1001/jamanetworkopen.2022.45826. JAMA Netw Open. 2022. PMID: 36480199 Free PMC article.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Al-Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang YH, Spencer-Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. Al-Ali S, et al. Among authors: konstantino m. Am J Med Genet A. 2022 Oct;188(10):2869-2878. doi: 10.1002/ajmg.a.62918. Epub 2022 Jul 28. Am J Med Genet A. 2022. PMID: 35899841 Free PMC article.
Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth.
Salas AA, Carlo WA, Do BT, Bell EF, Das A, Van Meurs KP, Poindexter BB, Shankaran S, Younge N, Watterberg KL, Higgins RD; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Salas AA, et al. J Pediatr. 2021 Oct;237:148-153.e3. doi: 10.1016/j.jpeds.2021.06.026. Epub 2021 Jun 19. J Pediatr. 2021. PMID: 34157349 Free PMC article. Clinical Trial.
Physiologically Based Pharmacokinetic Modeling of Meropenem in Preterm and Term Infants.
Ganguly S, Edginton AN, Gerhart JG, Cohen-Wolkowiez M, Greenberg RG, Gonzalez D; Best Pharmaceuticals for Children Act-Pediatric Trials Network Steering Committee. Ganguly S, et al. Clin Pharmacokinet. 2021 Dec;60(12):1591-1604. doi: 10.1007/s40262-021-01046-6. Epub 2021 Jun 22. Clin Pharmacokinet. 2021. PMID: 34155614 Free PMC article.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M; Undiagnosed Diseases Network; Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Mis EK, et al. Among authors: konstantino m. Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438828 Free PMC article.
118 results